Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

Abstract

This paper describes a full detailed high performance liquid chromatography/tandem mass spectrometry method for the identification and quantification of human urine alpha-aminoadipic semialdehyde, biomarker of pyridoxine-dependent epilepsy. The ionization mode of the electrospray interface was negative and the metabolite was detected in the multiple reaction monitoring mode. Intra-day and inter-day laboratory precision were 4.64% and 7.30%, respectively, total run time was 3.5min. The calibration curve was linear between 0.25 and 10nmol with a correlation coefficient of the calibration line (R(2)≥0.9984); the limit of quantification was 0.25nmol within the control group. This simple, fast, high reproducible and robust procedure facilitates a rapid diagnosis of patients with pyridoxine-dependent epilepsy and can also be used to confirm the elevated urinary alpha-aminoadipic semialdehyde excretion in patients with other metabolic diseases as molybdenum cofactor and isolated sulphite oxidase deficiencies.

• Authors: Isaac Ferrer-López, Pedro Ruiz-Sala, Begoña Merinero, Celia Pérez-Cerdá, Magdalena Ugarte
• Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (J Chromatogr B Analyt Technol Biomed Life Sci) Vol. 944 Pg. 141-3 (Jan 01 2014) ISSN: 1873-376X [Electronic] Netherlands
• PMID: 24316525 (Publication Type: Journal Article)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• 2-Aminoadipic Acid
• allysine

Topics

• 2-Aminoadipic Acid (analogs & derivatives, urine)
• Adolescent
• Child, Preschool
• Chromatography, Liquid (methods)
• Epilepsy
• Humans
• Infant
• Infant, Newborn
• Linear Models
• Metal Metabolism, Inborn Errors (diagnosis, urine)
• Reproducibility of Results
• Sensitivity and Specificity
• Tandem Mass Spectrometry (methods)